ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln)

gnomAD frequency: 0.00002  dbSNP: rs773926521
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767536 SCV001998399 uncertain significance not provided 2019-08-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001868479 SCV002292551 benign Adams-Oliver syndrome 5 2023-07-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001868479 SCV002553474 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271295 SCV002553475 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343830 SCV002621997 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-12-14 criteria provided, single submitter clinical testing The p.R1234Q variant (also known as c.3701G>A), located in coding exon 23 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3701. The arginine at codon 1234 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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